title: Genetics on a WHIM.
abstract: We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused by a heterozygous mutation in the CXCR4 gene. Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop. In this review, we will focus on the clinical manifestations, pathophysiology, diagnosis and possible therapies for this rare entity.
authors.affiliation: Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA.
authors.forename: Omar
authors.initials: O
authors.lastname: Al Ustwani
authors.forename: Razelle
authors.initials: R
authors.lastname: Kurzrock
authors.forename: Meir
authors.initials: M
authors.lastname: Wetzler
mesh_terms: D000818:Animals; D001596:Benzylamines; D000080027:Cyclams; D006571:Heterocyclic Compounds / Q000627:therapeutic use; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D000081207:Primary Immunodeficiency Diseases; D019718:Receptors, CXCR4 / Q000037:antagonists & inhibitors / Q000235:genetics; D014860:Warts / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*
chemical_list: D001596:Benzylamines; D000080027:Cyclams; D006571:Heterocyclic Compounds; D019718:Receptors, CXCR4; C088327:plerixafor
keywords: CXCR4; WHIM; myelokathexis; neutropenia; plerixafor